Description of DiGeorge Syndrome : This is a chromosomal micro deletion disorder in which some of chromosome 22 is deleted. This disorder varies but comes with Conotruncal congenital heart disease, facial abnormalities, and endocrine and immune disorders. In the mid 1960s, DiGeorge got it's name by the person whom found it, the name was Angelo DiGeorge, DiGeorge was an endocrinologist. He notice a series of distinguished groups of similar clinic features. It was founded to be a the result of a lot of chromosome.
Inheritance Pattern : It is a syndrome thats occurrence is unknown, but patients who have it have a small part of chromosome 22 missing at the q11.2 region. This region has about 30 different genes.
Symptoms : - Bluish skin due to poor circulation with oxygen-rich blood.
- Poor muscle tone
- Shortness of breath
-as an infant, it takes a while to roll up or to sit up
- Frequent infections
- Twitches or spasms around the arms, hands, mouth, and throat.
- A gap in the roof of the mouth, or other problems
- Facial features - Low ear set, wide eyes, narrow grove in the upper lip
- Unable to gain weight
Treatment / Prognosis :
DiGeorge disease is NOT curable
- IVIG (Intravenous immunoglobulin) - This is a type of I.V. that is inserted into the blood stream creating more of an immunity against infections.
- This disease is livable, the heart defects depending how minor it is is for the most part treatable. -----Hear is a SUPPORT GROUP you can visit for help, http://www.mdjunction.com/digeorge-syndrome
Incidence / Frequency : DiGeorge occurs once in every 3,000 to 4,000 live births. Reminder -"
Description of Disorder: You will write a brief description (defintion) of your disorder. This should be a short paragraph introducing your topic including various forms of the disorder, how the disorder was named, is it named something else, etc.
Inheritance Pattern: How is this disorder inherited (dominant, recessive, sex-linked, chromosomal number / structure)? On which chromosome (location on the chromosome) is this disorder located? Give an EXACT location on the genome.
Symptoms: What are the physical problems associated with this disorder? What limitations do people with this disorder face? What is the range of symptoms?
Treatment / Prognosis: How is the disorder treated? Is the disorder curable, manageable, or does it cause premature death? Are there any support groups that someone with this disorder can attend (how can the groups be contacted)?
Incidence / Frequency: How often does this disorder show up in the population? How many people are living with this disorder? Is a certain population affected more than others?
Work Cited: Where did you get your information (must include a minimum of 3 websites). You may not use Wikipedia.com. All sites need to be cited in proper MLA format as shown below.
Pictures / Videos (3): You must include three pictures or video clips showing someone with this disorder. Your pictures / videos may also show what the cells look like, the anatomy of the disorder, etc.
Discussion Questions (3): Do your discussion questions show an understanding of the disorder? Are your questions interesting and thought-provoking? Do they require the student to read your page to answer the question correctly?
Discussion Responses: Did you respond to three other people’s Wiki pages discussion questions? Are your discussion responses correct, thoughtful, and thorough?
Works Cited:
Author. Title of Site. (found in the blue title box at the top of the screen). Date of Publication or last update. Name of any organization associated with the Site. Date of access <Network Address>."
Description of DiGeorge Syndrome : This is a chromosomal micro deletion disorder in which some of chromosome 22 is deleted. This disorder varies but comes with Conotruncal congenital heart disease, facial abnormalities, and endocrine and immune disorders. In the mid 1960s, DiGeorge got it's name by the person whom found it, the name was Angelo DiGeorge, DiGeorge was an endocrinologist. He notice a series of distinguished groups of similar clinic features. It was founded to be a the result of a lot of chromosome.
Inheritance Pattern : It is a syndrome thats occurrence is unknown, but patients who have it have a small part of chromosome 22 missing at the q11.2 region. This region has about 30 different genes.
Symptoms : - Bluish skin due to poor circulation with oxygen-rich blood.
- Poor muscle tone
- Shortness of breath
-as an infant, it takes a while to roll up or to sit up
- Frequent infections
- Twitches or spasms around the arms, hands, mouth, and throat.
- A gap in the roof of the mouth, or other problems
- Facial features - Low ear set, wide eyes, narrow grove in the upper lip
- Unable to gain weight
Treatment / Prognosis :
DiGeorge disease is NOT curable
- IVIG (Intravenous immunoglobulin) - This is a type of I.V. that is inserted into the blood stream creating more of an immunity against infections.
- This disease is livable, the heart defects depending how minor it is is for the most part treatable.
-----Hear is a SUPPORT GROUP you can visit for help,
http://www.mdjunction.com/digeorge-syndrome
Incidence / Frequency : DiGeorge occurs once in every 3,000 to 4,000 live births.
- Works Cited:
Author. Title of Site. (found in the blue title box at the top of the screen). Date of Publication or last update. Name of any organization associated with the Site. Date of access <Network Address>."Brandon Rosales
http://www.caritasnorwood.org/Health/Content.asp?PageID=P01682
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gnd&part=digeorgesyndrome